Findings from University of Missouri Provide New Insights into Pain and Central Nervous System (Biochemical, Structural, and Computational Analyses of Two New Clinically Identified Missense Mutations of aldh7a1).

A recent study conducted by researchers at the University of Missouri has provided new insights into pain and the central nervous system. The study focused on aldehyde dehydrogenase 7A1 (ALDH7A1), an enzyme involved in lysine catabolism. The researchers analyzed two missense mutations of the ALDH7A1 gene that cause pyridoxine dependent epilepsy (PDE), a rare neurometabolic disorder. The mutations were found to significantly reduce the catalytic efficiency of the enzyme and affect its oligomerization. The study adds to our understanding of the molecular determinants underlying PDE. [Extracted from the article]